Canonical Allele Identifier: CA340223133

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398454A>C (hg19) ; chr1:g.46932782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932782A>C , CM000663.2:g.46932782A>C	GRCh38
NC_000001.10:g.47398454A>C , CM000663.1:g.47398454A>C	GRCh37
NC_000001.9:g.47171041A>C	NCBI36
NG_007932.1:g.13703T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1343T>G MANE Select	ENSP00000311095.4:p.Leu448Arg
ENST00000310638.8:c.1343T>G	ENSP00000311095.4:p.Leu448Arg
ENST00000371904.8:c.1346T>G	ENSP00000360971.4:p.Leu449Arg
ENST00000371905.1:c.1343T>G	ENSP00000360972.1:p.Leu448Arg
ENST00000462347.5:c.1049T>G	ENSP00000477495.1:p.Leu350Arg
ENST00000465874.5:c.*141T>G	ENSP00000476368.1:n.*141T>G
ENST00000468629.5:c.*48T>G	ENSP00000476619.1:n.*48T>G
ENST00000474458.5:c.*48T>G	ENSP00000476988.1:n.*48T>G
ENST00000475477.5:c.*137T>G	ENSP00000476854.1:n.*137T>G
NM_000778.3:c.1343T>G	NP_000769.2:p.Leu448Arg
XM_005270539.1:c.1049T>G	XP_005270596.1:p.Leu350Arg
XM_011540826.1:c.1361T>G	XP_011539128.1:p.Leu454Arg
XM_011540827.1:c.1067T>G	XP_011539129.1:p.Leu356Arg
XM_011540828.1:c.1049T>G	XP_011539130.1:p.Leu350Arg
XR_246241.1:n.1247T>G
XR_246242.1:n.1231T>G
NM_001319155.1:c.1247T>G	NP_001306084.1:p.Leu416Arg
NM_001363587.1:c.1049T>G	NP_001350516.1:p.Leu350Arg
NR_134988.1:n.1048T>G
NR_134989.1:n.1239T>G
NR_134990.1:n.1233T>G
NR_134991.1:n.1220T>G
NR_134992.1:n.849T>G
NR_134993.1:n.983T>G
NR_134994.1:n.1255T>G
XM_017000465.1:c.1031T>G	XP_016855954.1:p.Leu344Arg
XR_001737005.1:n.1321T>G
NM_000778.4:c.1343T>G MANE Select	NP_000769.2:p.Leu448Arg
NM_001319155.2:c.1247T>G	NP_001306084.1:p.Leu416Arg
NM_001363587.2:c.1049T>G	NP_001350516.1:p.Leu350Arg
NR_134988.2:n.1040T>G
NR_134989.2:n.1231T>G
NR_134990.2:n.1225T>G
NR_134991.2:n.1212T>G
NR_134992.2:n.841T>G
NR_134993.2:n.975T>G
NR_134994.2:n.1247T>G